Linked Data
dbSNP Id:
rs11841001
gnomAD v2:
13-76249103-G-A
gnomAD v3:
13-75674967-G-A
gnomAD v4:
13-75674967-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.75674967G>A , CM000675.2:g.75674967G>A | GRCh38 |
| NC_000013.10:g.76249103G>A , CM000675.1:g.76249103G>A | GRCh37 |
| NC_000013.9:g.75147104G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377534.8:c.70-38215G>A MANE Select | ENSP00000366757.4:n.70-38215G>A | |
| ENST00000341547.8:c.226-38215G>A | ENSP00000342112.4:n.226-38215G>A | |
| ENST00000357063.7:c.181-38215G>A | ENSP00000349571.4:n.181-38215G>A | |
| ENST00000377499.9:c.70-38215G>A | ENSP00000366719.5:n.70-38215G>A | |
| ENST00000377534.7:c.70-38215G>A | ENSP00000366757.4:n.70-38215G>A | |
| ENST00000533305.5:n.82-38215G>A | ||
| NM_001306080.1:c.70-38215G>A | NP_001293009.1:n.70-38215G>A | |
| NM_005358.5:c.226-38215G>A | NP_005349.3:n.226-38215G>A | |
| XM_017020574.2:c.-630-38215G>A | XP_016876063.1:n.-630-38215G>A | |
| NM_001306080.2:c.70-38215G>A MANE Select | NP_001293009.1:n.70-38215G>A |